|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0000544)
|
External ophthalmoplegia |
|
|
|
|
40 / 7739
|
|
5
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
6
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
7
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
8
|
(HPO:0001380)
|
Ligamentous laxity |
|
|
|
|
8 / 7739
|
|
9
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
10
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
11
|
(HPO:0001789)
|
Hydrops fetalis |
|
|
|
|
63 / 7739
|
|
12
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
|
13
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
14
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
17
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
18
|
(HPO:0003327)
|
Axial muscle weakness |
|
|
|
|
10 / 7739
|
|
19
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
|
20
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
21
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
22
|
(HPO:0003738)
|
Exercise-induced myalgia |
|
|
|
|
19 / 7739
|
|
23
|
(HPO:0003787)
|
Type 1 and type 2 muscle fiber minicore regions |
|
|
|
|
3 / 7739
|
|
24
|
(HPO:0003798)
|
Nemaline bodies |
rare [HPO:skoehler]
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
26
|
(HPO:0009025)
|
Increased connective tissue |
|
|
|
|
11 / 7739
|
|
27
|
(HPO:0009046)
|
Difficulty running |
|
|
|
|
17 / 7739
|
|
28
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
29
|
(OMIM)
|
External ophthalmoplegia affecting upward and lateral gaze |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Inverted 'V-shaped' mouth |
|
|
|
|
3 / 7739
|
|
31
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
32
|
(OMIM)
|
Muscle atrophy, limb-girdle and proximal |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Difficulty running or inability to run |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Walking may be limited |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Muscle biopsy shows nonspecific myopathic changes |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Merosin-positive biopsy |
|
|
|
|
5 / 7739
|
|
37
|
(OMIM)
|
Focal loss of cross striations on muscle biopsy |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Disorganization of the myofibrillar pattern |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Increased central nucleation |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Type 1 fiber atrophy |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Type 1 fiber predominance |
|
|
|
|
9 / 7739
|
|
42
|
(OMIM)
|
Type 2 fiber hypertrophy |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Fiber type disproportion |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria |
|
|
|
|
5 / 7739
|
|
45
|
(OMIM)
|
Minicores extend full fiber diameter |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Minicore regions are poorly defined and do not extend through entire fiber length |
|
|
|
|
5 / 7739
|
|
47
|
(OMIM)
|
Dystrophic changes may be present |
|
|
|
|
5 / 7739
|
|
48
|
(OMIM)
|
Z-line streaming see on electron microscopy |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Greater sartorius involvement than gracilis involvement seen on MRI |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Greater soleus involvement than gastrocnemii involvement seen on MRI |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Some patients only achieve sitting |
|
|
|
|
1 / 7739
|
|
52
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
|
53
|
(OMIM)
|
Normal serum creatine kinase |
|
|
|
|
12 / 7739
|
|
54
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
55
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
56
|
(HPO:0003623)
|
Neonatal onset |
|
|
|
|
22 / 7739
|